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  • Title: An alpha0-thalassemia-like mutation: Hb Suan-Dok [alpha109(G16)Leu-->Arg] carried by a recombinant -alpha(3.7) gene.
    Author: Moradkhani K, Mazurier E, Giordano PC, Wajcman H, Préhu C.
    Journal: Hemoglobin; 2008; 32(4):419-24. PubMed ID: 18654893.
    Abstract:
    In a family of Spanish origin, five individuals presented a heterozygous alpha(0)-thalassemia (alpha-thal)-like phenotype. All had a -alpha(3.7) deletion with the recombinant alpha gene carrying the Hb Suan-Dok [alpha109(G16)LeuArg] mutation, proposed to be thalassemic. Thus, the abnormal chromosome carried an alpha(0)-thal-like allele that has to be taken into account for genetic counseling and prenatal diagnosis. The possibility of Hb H disease or hydrops fetalis should be considered when this allele is associated with alpha(+)-thal or with another alpha(0)-thal, respectively. Other described genotypes associated with Hb Suan-Dok are discussed.
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